Spinal muscular atrophy: Molecular mechanism of pathogenesis, diagnosis, therapeutics, and clinical trials in the Indian context
J Biosci. 2024;49:36.ABSTRACTSpinal muscular atrophy (SMA) is a neuromuscular, rare genetic disorder caused due to loss-of-function mutations in the survival motor neuron-1 (SMN1) gene, leading to deficiency of the SMN protein. The severity of the disease phenotype is inversely proportional to the copy number of another gene, SMN2, that differs from SMN1 by a few nucleotides. The current diagnostic methods for SMA include symptom-based diagnosis, biochemical methods like detection of serum creatine kinase, and molecular detection of disease-causing mutations using polymerase chain reaction (PCR), multiplex ligation-depende...
Source: Journal of Biosciences - February 22, 2024 Category: Biomedical Science Authors: Ashutosh Aasdev Sreelekshmi R S V Rajesh Iyer Shivranjani C Moharir Source Type: research
Spinal muscular atrophy: Molecular mechanism of pathogenesis, diagnosis, therapeutics, and clinical trials in the Indian context
J Biosci. 2024;49:36.ABSTRACTSpinal muscular atrophy (SMA) is a neuromuscular, rare genetic disorder caused due to loss-of-function mutations in the survival motor neuron-1 (SMN1) gene, leading to deficiency of the SMN protein. The severity of the disease phenotype is inversely proportional to the copy number of another gene, SMN2, that differs from SMN1 by a few nucleotides. The current diagnostic methods for SMA include symptom-based diagnosis, biochemical methods like detection of serum creatine kinase, and molecular detection of disease-causing mutations using polymerase chain reaction (PCR), multiplex ligation-depende...
Source: Journal of Biosciences - February 22, 2024 Category: Biomedical Science Authors: Ashutosh Aasdev Sreelekshmi R S V Rajesh Iyer Shivranjani C Moharir Source Type: research
Non-viral delivery of nucleic acid for treatment of rare diseases of the muscle
J Biosci. 2024;49:27.ABSTRACTRare muscular disorders (RMDs) are disorders that affect a small percentage of the population. The disorders which are attributed to genetic mutations often manifest in the form of progressive weakness and atrophy of skeletal and heart muscles. RMDs includes disorders such as Duchenne muscular dystrophy (DMD), GNE myopathy, spinal muscular atrophy (SMA), limb girdle muscular dystrophy, and so on. Due to the infrequent occurrence of these disorders, development of therapeutic approaches elicits less attention compared with other more prevalent diseases. However, in recent times, improved underst...
Source: Journal of Biosciences - February 22, 2024 Category: Biomedical Science Authors: Divya Rao Munia Ganguli Source Type: research
Non-viral delivery of nucleic acid for treatment of rare diseases of the muscle
J Biosci. 2024;49:27.ABSTRACTRare muscular disorders (RMDs) are disorders that affect a small percentage of the population. The disorders which are attributed to genetic mutations often manifest in the form of progressive weakness and atrophy of skeletal and heart muscles. RMDs includes disorders such as Duchenne muscular dystrophy (DMD), GNE myopathy, spinal muscular atrophy (SMA), limb girdle muscular dystrophy, and so on. Due to the infrequent occurrence of these disorders, development of therapeutic approaches elicits less attention compared with other more prevalent diseases. However, in recent times, improved underst...
Source: Journal of Biosciences - February 22, 2024 Category: Biomedical Science Authors: Divya Rao Munia Ganguli Source Type: research
Spinal muscular atrophy: Molecular mechanism of pathogenesis, diagnosis, therapeutics, and clinical trials in the Indian context
J Biosci. 2024;49:36.ABSTRACTSpinal muscular atrophy (SMA) is a neuromuscular, rare genetic disorder caused due to loss-of-function mutations in the survival motor neuron-1 (SMN1) gene, leading to deficiency of the SMN protein. The severity of the disease phenotype is inversely proportional to the copy number of another gene, SMN2, that differs from SMN1 by a few nucleotides. The current diagnostic methods for SMA include symptom-based diagnosis, biochemical methods like detection of serum creatine kinase, and molecular detection of disease-causing mutations using polymerase chain reaction (PCR), multiplex ligation-depende...
Source: Journal of Biosciences - February 22, 2024 Category: Biomedical Science Authors: Ashutosh Aasdev Sreelekshmi R S V Rajesh Iyer Shivranjani C Moharir Source Type: research
Non-viral delivery of nucleic acid for treatment of rare diseases of the muscle
J Biosci. 2024;49:27.ABSTRACTRare muscular disorders (RMDs) are disorders that affect a small percentage of the population. The disorders which are attributed to genetic mutations often manifest in the form of progressive weakness and atrophy of skeletal and heart muscles. RMDs includes disorders such as Duchenne muscular dystrophy (DMD), GNE myopathy, spinal muscular atrophy (SMA), limb girdle muscular dystrophy, and so on. Due to the infrequent occurrence of these disorders, development of therapeutic approaches elicits less attention compared with other more prevalent diseases. However, in recent times, improved underst...
Source: Journal of Biosciences - February 22, 2024 Category: Biomedical Science Authors: Divya Rao Munia Ganguli Source Type: research
Spinal muscular atrophy: Molecular mechanism of pathogenesis, diagnosis, therapeutics, and clinical trials in the Indian context
J Biosci. 2024;49:36.ABSTRACTSpinal muscular atrophy (SMA) is a neuromuscular, rare genetic disorder caused due to loss-of-function mutations in the survival motor neuron-1 (SMN1) gene, leading to deficiency of the SMN protein. The severity of the disease phenotype is inversely proportional to the copy number of another gene, SMN2, that differs from SMN1 by a few nucleotides. The current diagnostic methods for SMA include symptom-based diagnosis, biochemical methods like detection of serum creatine kinase, and molecular detection of disease-causing mutations using polymerase chain reaction (PCR), multiplex ligation-depende...
Source: Journal of Biosciences - February 22, 2024 Category: Biomedical Science Authors: Ashutosh Aasdev Sreelekshmi R S V Rajesh Iyer Shivranjani C Moharir Source Type: research
Spinal muscular atrophy: Molecular mechanism of pathogenesis, diagnosis, therapeutics, and clinical trials in the Indian context
J Biosci. 2024;49:36.ABSTRACTSpinal muscular atrophy (SMA) is a neuromuscular, rare genetic disorder caused due to loss-of-function mutations in the survival motor neuron-1 (SMN1) gene, leading to deficiency of the SMN protein. The severity of the disease phenotype is inversely proportional to the copy number of another gene, SMN2, that differs from SMN1 by a few nucleotides. The current diagnostic methods for SMA include symptom-based diagnosis, biochemical methods like detection of serum creatine kinase, and molecular detection of disease-causing mutations using polymerase chain reaction (PCR), multiplex ligation-depende...
Source: Journal of Biosciences - February 22, 2024 Category: Biomedical Science Authors: Ashutosh Aasdev Sreelekshmi R S V Rajesh Iyer Shivranjani C Moharir Source Type: research
Non-viral delivery of nucleic acid for treatment of rare diseases of the muscle
J Biosci. 2024;49:27.ABSTRACTRare muscular disorders (RMDs) are disorders that affect a small percentage of the population. The disorders which are attributed to genetic mutations often manifest in the form of progressive weakness and atrophy of skeletal and heart muscles. RMDs includes disorders such as Duchenne muscular dystrophy (DMD), GNE myopathy, spinal muscular atrophy (SMA), limb girdle muscular dystrophy, and so on. Due to the infrequent occurrence of these disorders, development of therapeutic approaches elicits less attention compared with other more prevalent diseases. However, in recent times, improved underst...
Source: Journal of Biosciences - February 22, 2024 Category: Biomedical Science Authors: Divya Rao Munia Ganguli Source Type: research
Spinal muscular atrophy: Molecular mechanism of pathogenesis, diagnosis, therapeutics, and clinical trials in the Indian context
J Biosci. 2024;49:36.ABSTRACTSpinal muscular atrophy (SMA) is a neuromuscular, rare genetic disorder caused due to loss-of-function mutations in the survival motor neuron-1 (SMN1) gene, leading to deficiency of the SMN protein. The severity of the disease phenotype is inversely proportional to the copy number of another gene, SMN2, that differs from SMN1 by a few nucleotides. The current diagnostic methods for SMA include symptom-based diagnosis, biochemical methods like detection of serum creatine kinase, and molecular detection of disease-causing mutations using polymerase chain reaction (PCR), multiplex ligation-depende...
Source: Journal of Biosciences - February 22, 2024 Category: Biomedical Science Authors: Ashutosh Aasdev Sreelekshmi R S V Rajesh Iyer Shivranjani C Moharir Source Type: research
Non-viral delivery of nucleic acid for treatment of rare diseases of the muscle
J Biosci. 2024;49:27.ABSTRACTRare muscular disorders (RMDs) are disorders that affect a small percentage of the population. The disorders which are attributed to genetic mutations often manifest in the form of progressive weakness and atrophy of skeletal and heart muscles. RMDs includes disorders such as Duchenne muscular dystrophy (DMD), GNE myopathy, spinal muscular atrophy (SMA), limb girdle muscular dystrophy, and so on. Due to the infrequent occurrence of these disorders, development of therapeutic approaches elicits less attention compared with other more prevalent diseases. However, in recent times, improved underst...
Source: Journal of Biosciences - February 22, 2024 Category: Biomedical Science Authors: Divya Rao Munia Ganguli Source Type: research
Spinal muscular atrophy: Molecular mechanism of pathogenesis, diagnosis, therapeutics, and clinical trials in the Indian context
J Biosci. 2024;49:36.ABSTRACTSpinal muscular atrophy (SMA) is a neuromuscular, rare genetic disorder caused due to loss-of-function mutations in the survival motor neuron-1 (SMN1) gene, leading to deficiency of the SMN protein. The severity of the disease phenotype is inversely proportional to the copy number of another gene, SMN2, that differs from SMN1 by a few nucleotides. The current diagnostic methods for SMA include symptom-based diagnosis, biochemical methods like detection of serum creatine kinase, and molecular detection of disease-causing mutations using polymerase chain reaction (PCR), multiplex ligation-depende...
Source: Journal of Biosciences - February 22, 2024 Category: Biomedical Science Authors: Ashutosh Aasdev Sreelekshmi R S V Rajesh Iyer Shivranjani C Moharir Source Type: research
Non-viral delivery of nucleic acid for treatment of rare diseases of the muscle
J Biosci. 2024;49:27.ABSTRACTRare muscular disorders (RMDs) are disorders that affect a small percentage of the population. The disorders which are attributed to genetic mutations often manifest in the form of progressive weakness and atrophy of skeletal and heart muscles. RMDs includes disorders such as Duchenne muscular dystrophy (DMD), GNE myopathy, spinal muscular atrophy (SMA), limb girdle muscular dystrophy, and so on. Due to the infrequent occurrence of these disorders, development of therapeutic approaches elicits less attention compared with other more prevalent diseases. However, in recent times, improved underst...
Source: Journal of Biosciences - February 22, 2024 Category: Biomedical Science Authors: Divya Rao Munia Ganguli Source Type: research
Non-viral delivery of nucleic acid for treatment of rare diseases of the muscle
J Biosci. 2024;49:27.ABSTRACTRare muscular disorders (RMDs) are disorders that affect a small percentage of the population. The disorders which are attributed to genetic mutations often manifest in the form of progressive weakness and atrophy of skeletal and heart muscles. RMDs includes disorders such as Duchenne muscular dystrophy (DMD), GNE myopathy, spinal muscular atrophy (SMA), limb girdle muscular dystrophy, and so on. Due to the infrequent occurrence of these disorders, development of therapeutic approaches elicits less attention compared with other more prevalent diseases. However, in recent times, improved underst...
Source: Journal of Biosciences - February 22, 2024 Category: Biomedical Science Authors: Divya Rao Munia Ganguli Source Type: research
Spinal muscular atrophy: Molecular mechanism of pathogenesis, diagnosis, therapeutics, and clinical trials in the Indian context
J Biosci. 2024;49:36.ABSTRACTSpinal muscular atrophy (SMA) is a neuromuscular, rare genetic disorder caused due to loss-of-function mutations in the survival motor neuron-1 (SMN1) gene, leading to deficiency of the SMN protein. The severity of the disease phenotype is inversely proportional to the copy number of another gene, SMN2, that differs from SMN1 by a few nucleotides. The current diagnostic methods for SMA include symptom-based diagnosis, biochemical methods like detection of serum creatine kinase, and molecular detection of disease-causing mutations using polymerase chain reaction (PCR), multiplex ligation-depende...
Source: Journal of Biosciences - February 22, 2024 Category: Biomedical Science Authors: Ashutosh Aasdev Sreelekshmi R S V Rajesh Iyer Shivranjani C Moharir Source Type: research
